ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826842117
Gene: NPHS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
558528
ClinVar RCV Id:
RCV000674814
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001284504.1:p.Lys309_Lys310del
CA658822853
NM_001297575.2:c.925_930del